gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26236412 (NFE)
Genomes Max Group AF
0.26236412 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.47586732T>G , CM000668.2:g.47586732T>G | GRCh38 |
| NC_000006.11:g.47554468T>G , CM000668.1:g.47554468T>G | GRCh37 |
| NC_000006.10:g.47662427T>G | NCBI36 |
| NG_008878.1:g.113944T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359314.5:c.1108+4667T>G MANE Select | ENSP00000352264.5:n.1108+4667T>G | |
| NM_012120.2:c.1108+4667T>G | NP_036252.1:n.1108+4667T>G | |
| XM_005248976.1:c.1096+4667T>G | XP_005249033.1:n.1096+4667T>G | |
| XM_005248977.2:c.1108+4667T>G | XP_005249034.1:n.1108+4667T>G | |
| XM_011514449.1:c.961+4667T>G | XP_011512751.1:n.961+4667T>G | |
| XM_011514449.2:c.961+4667T>G | XP_011512751.1:n.961+4667T>G | |
| XM_017010641.1:c.1108+4667T>G | XP_016866130.1:n.1108+4667T>G | |
| NM_012120.3:c.1108+4667T>G MANE Select | NP_036252.1:n.1108+4667T>G |